Incidental Mutation 'R8423:Carmil3'
ID 653322
Institutional Source Beutler Lab
Gene Symbol Carmil3
Ensembl Gene ENSMUSG00000022211
Gene Name capping protein regulator and myosin 1 linker 3
Synonyms Lrrc16b
MMRRC Submission 067899-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # R8423 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 55728108-55745729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55736522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 662 (N662S)
Ref Sequence ENSEMBL: ENSMUSP00000075587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076236] [ENSMUST00000226757] [ENSMUST00000228877]
AlphaFold Q3UFQ8
Predicted Effect probably damaging
Transcript: ENSMUST00000076236
AA Change: N662S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: N662S

DomainStartEndE-ValueType
low complexity region 138 151 N/A INTRINSIC
internal_repeat_1 203 297 7.56e-6 PROSPERO
Blast:LRR 333 362 5e-10 BLAST
Blast:LRR 423 446 1e-5 BLAST
low complexity region 447 462 N/A INTRINSIC
low complexity region 468 479 N/A INTRINSIC
internal_repeat_1 496 593 7.56e-6 PROSPERO
Pfam:CARMIL_C 778 1065 5.3e-76 PFAM
low complexity region 1068 1117 N/A INTRINSIC
low complexity region 1137 1146 N/A INTRINSIC
low complexity region 1204 1216 N/A INTRINSIC
low complexity region 1318 1329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226446
Predicted Effect probably benign
Transcript: ENSMUST00000226757
Predicted Effect probably benign
Transcript: ENSMUST00000228877
Meta Mutation Damage Score 0.1670 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A G 12: 113,454,530 (GRCm39) D449G possibly damaging Het
Ampd1 T C 3: 102,988,305 (GRCm39) S83P probably benign Het
Bub1 G A 2: 127,649,750 (GRCm39) L703F probably benign Het
C1rb T A 6: 124,551,617 (GRCm39) D242E probably damaging Het
Carf T A 1: 60,189,752 (GRCm39) L659Q possibly damaging Het
Ccno A G 13: 113,124,678 (GRCm39) S83G possibly damaging Het
Chd3 A T 11: 69,245,252 (GRCm39) Y1155* probably null Het
Clec16a A G 16: 10,394,527 (GRCm39) E295G probably benign Het
Clnk A G 5: 38,952,253 (GRCm39) probably null Het
Clvs2 T C 10: 33,498,855 (GRCm39) D25G possibly damaging Het
Cnr2 C T 4: 135,644,827 (GRCm39) R302W probably damaging Het
Col20a1 A G 2: 180,640,498 (GRCm39) T594A probably damaging Het
Dclk3 C T 9: 111,297,787 (GRCm39) R444W possibly damaging Het
Dmxl1 T C 18: 49,998,183 (GRCm39) V761A probably damaging Het
Dnah7a C A 1: 53,512,063 (GRCm39) K2999N possibly damaging Het
Dusp28 T C 1: 92,834,906 (GRCm39) S44P probably damaging Het
Enpep T G 3: 129,102,774 (GRCm39) N394T probably damaging Het
Fam135a A T 1: 24,060,998 (GRCm39) F1343I probably damaging Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fbxo40 A T 16: 36,790,947 (GRCm39) H54Q probably damaging Het
Galnt9 A G 5: 110,744,111 (GRCm39) D315G probably benign Het
Gbp4 T A 5: 105,267,800 (GRCm39) D482V probably damaging Het
Gm17175 T A 14: 51,809,070 (GRCm39) I99F possibly damaging Het
Heatr4 A G 12: 84,027,104 (GRCm39) F51S probably benign Het
Herc1 T C 9: 66,415,442 (GRCm39) S4806P probably damaging Het
Hoxc11 G A 15: 102,863,177 (GRCm39) V73I possibly damaging Het
Knl1 T G 2: 118,900,513 (GRCm39) I738S probably damaging Het
Lcor T C 19: 41,573,888 (GRCm39) I881T possibly damaging Het
Lipt2 T C 7: 99,809,450 (GRCm39) F179S probably damaging Het
Lrrc8b G A 5: 105,628,622 (GRCm39) V323M probably damaging Het
Ltbp1 T C 17: 75,599,852 (GRCm39) S665P probably benign Het
Miga1 A T 3: 152,028,045 (GRCm39) D161E probably benign Het
Mynn A G 3: 30,657,933 (GRCm39) T84A probably benign Het
Or13c7d T C 4: 43,770,598 (GRCm39) S138G possibly damaging Het
Or3a1b T C 11: 74,012,492 (GRCm39) F126L probably benign Het
Or4a75 A T 2: 89,448,331 (GRCm39) D68E probably damaging Het
Pik3r3 C T 4: 116,079,572 (GRCm39) S23L probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ralgapa1 A G 12: 55,705,847 (GRCm39) S1892P probably damaging Het
Slc6a18 T A 13: 73,813,693 (GRCm39) Q540L probably benign Het
Tfap2a A T 13: 40,872,706 (GRCm39) N323K possibly damaging Het
Tgm1 A T 14: 55,943,100 (GRCm39) M580K probably benign Het
Tnrc6b G A 15: 80,813,619 (GRCm39) G1792D unknown Het
Trim66 T A 7: 109,074,599 (GRCm39) Q554L possibly damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn1r238 G T 18: 3,123,365 (GRCm39) C16* probably null Het
Vmn1r6 G A 6: 56,979,495 (GRCm39) M52I probably benign Het
Zfp61 A G 7: 23,991,459 (GRCm39) F231L probably benign Het
Other mutations in Carmil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Carmil3 APN 14 55,735,755 (GRCm39) missense probably damaging 0.99
IGL00498:Carmil3 APN 14 55,739,352 (GRCm39) critical splice donor site probably null
IGL01061:Carmil3 APN 14 55,736,087 (GRCm39) missense possibly damaging 0.67
IGL01452:Carmil3 APN 14 55,733,515 (GRCm39) missense probably damaging 0.99
IGL01606:Carmil3 APN 14 55,731,306 (GRCm39) missense possibly damaging 0.83
IGL01633:Carmil3 APN 14 55,731,684 (GRCm39) missense possibly damaging 0.84
IGL01977:Carmil3 APN 14 55,730,993 (GRCm39) missense probably damaging 1.00
IGL02065:Carmil3 APN 14 55,731,279 (GRCm39) splice site probably benign
IGL02160:Carmil3 APN 14 55,731,015 (GRCm39) missense possibly damaging 0.70
IGL02491:Carmil3 APN 14 55,741,974 (GRCm39) missense probably benign 0.00
IGL02567:Carmil3 APN 14 55,736,339 (GRCm39) missense possibly damaging 0.93
IGL02629:Carmil3 APN 14 55,736,525 (GRCm39) missense probably damaging 0.97
IGL02720:Carmil3 APN 14 55,744,867 (GRCm39) missense probably damaging 0.97
IGL03100:Carmil3 APN 14 55,732,175 (GRCm39) missense probably damaging 0.99
PIT4434001:Carmil3 UTSW 14 55,732,145 (GRCm39) missense probably null 1.00
R0023:Carmil3 UTSW 14 55,730,333 (GRCm39) missense probably damaging 1.00
R0023:Carmil3 UTSW 14 55,730,333 (GRCm39) missense probably damaging 1.00
R0027:Carmil3 UTSW 14 55,731,860 (GRCm39) missense probably damaging 0.96
R0101:Carmil3 UTSW 14 55,735,212 (GRCm39) splice site probably benign
R0321:Carmil3 UTSW 14 55,739,698 (GRCm39) missense possibly damaging 0.63
R0370:Carmil3 UTSW 14 55,732,899 (GRCm39) missense possibly damaging 0.82
R0465:Carmil3 UTSW 14 55,737,318 (GRCm39) missense probably damaging 0.99
R0647:Carmil3 UTSW 14 55,739,892 (GRCm39) critical splice donor site probably null
R1503:Carmil3 UTSW 14 55,735,737 (GRCm39) missense probably damaging 0.96
R1635:Carmil3 UTSW 14 55,733,739 (GRCm39) missense possibly damaging 0.91
R1715:Carmil3 UTSW 14 55,741,989 (GRCm39) missense probably benign 0.02
R1923:Carmil3 UTSW 14 55,739,861 (GRCm39) missense probably damaging 0.99
R1944:Carmil3 UTSW 14 55,736,087 (GRCm39) missense probably damaging 0.97
R2513:Carmil3 UTSW 14 55,741,295 (GRCm39) missense probably damaging 0.98
R2892:Carmil3 UTSW 14 55,735,770 (GRCm39) missense probably damaging 0.96
R3433:Carmil3 UTSW 14 55,745,151 (GRCm39) missense probably benign 0.05
R3552:Carmil3 UTSW 14 55,744,859 (GRCm39) missense possibly damaging 0.86
R3783:Carmil3 UTSW 14 55,734,433 (GRCm39) missense probably damaging 1.00
R3787:Carmil3 UTSW 14 55,734,433 (GRCm39) missense probably damaging 1.00
R4181:Carmil3 UTSW 14 55,741,412 (GRCm39) missense probably benign 0.10
R4285:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4420:Carmil3 UTSW 14 55,731,045 (GRCm39) missense probably damaging 0.98
R4424:Carmil3 UTSW 14 55,738,928 (GRCm39) missense probably benign
R4506:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4507:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4534:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4535:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4549:Carmil3 UTSW 14 55,743,121 (GRCm39) splice site probably null
R4574:Carmil3 UTSW 14 55,736,933 (GRCm39) utr 3 prime probably benign
R4783:Carmil3 UTSW 14 55,738,778 (GRCm39) critical splice donor site probably null
R4784:Carmil3 UTSW 14 55,738,778 (GRCm39) critical splice donor site probably null
R5146:Carmil3 UTSW 14 55,734,636 (GRCm39) missense probably benign 0.02
R5279:Carmil3 UTSW 14 55,739,028 (GRCm39) missense probably damaging 0.98
R5425:Carmil3 UTSW 14 55,731,334 (GRCm39) missense probably benign 0.41
R5530:Carmil3 UTSW 14 55,731,081 (GRCm39) missense probably damaging 0.98
R5534:Carmil3 UTSW 14 55,732,347 (GRCm39) missense probably damaging 0.97
R5598:Carmil3 UTSW 14 55,741,456 (GRCm39) frame shift probably null
R5772:Carmil3 UTSW 14 55,730,696 (GRCm39) missense probably damaging 1.00
R5896:Carmil3 UTSW 14 55,741,456 (GRCm39) frame shift probably null
R5931:Carmil3 UTSW 14 55,736,397 (GRCm39) missense probably damaging 0.99
R6048:Carmil3 UTSW 14 55,741,302 (GRCm39) missense probably benign 0.00
R6103:Carmil3 UTSW 14 55,742,884 (GRCm39) missense probably benign 0.02
R6258:Carmil3 UTSW 14 55,737,889 (GRCm39) missense probably damaging 1.00
R6260:Carmil3 UTSW 14 55,737,889 (GRCm39) missense probably damaging 1.00
R6338:Carmil3 UTSW 14 55,737,306 (GRCm39) missense possibly damaging 0.83
R6339:Carmil3 UTSW 14 55,737,306 (GRCm39) missense possibly damaging 0.83
R6646:Carmil3 UTSW 14 55,745,387 (GRCm39) missense probably damaging 0.97
R6936:Carmil3 UTSW 14 55,739,018 (GRCm39) missense probably benign 0.04
R7164:Carmil3 UTSW 14 55,738,739 (GRCm39) missense probably damaging 0.98
R7214:Carmil3 UTSW 14 55,736,069 (GRCm39) missense probably damaging 1.00
R7223:Carmil3 UTSW 14 55,733,695 (GRCm39) missense possibly damaging 0.48
R7269:Carmil3 UTSW 14 55,731,352 (GRCm39) missense probably benign 0.03
R7319:Carmil3 UTSW 14 55,731,817 (GRCm39) missense probably benign 0.13
R7357:Carmil3 UTSW 14 55,728,590 (GRCm39) start gained probably benign
R7386:Carmil3 UTSW 14 55,735,204 (GRCm39) critical splice donor site probably null
R7463:Carmil3 UTSW 14 55,739,853 (GRCm39) missense probably damaging 1.00
R7598:Carmil3 UTSW 14 55,732,278 (GRCm39) missense possibly damaging 0.61
R7602:Carmil3 UTSW 14 55,738,965 (GRCm39) missense probably null 0.00
R7617:Carmil3 UTSW 14 55,735,348 (GRCm39) missense probably benign 0.06
R7985:Carmil3 UTSW 14 55,734,409 (GRCm39) missense probably benign 0.03
R8127:Carmil3 UTSW 14 55,735,701 (GRCm39) missense probably damaging 0.98
R8465:Carmil3 UTSW 14 55,734,305 (GRCm39) missense probably damaging 1.00
R8849:Carmil3 UTSW 14 55,734,627 (GRCm39) missense probably benign 0.01
R8955:Carmil3 UTSW 14 55,733,534 (GRCm39) missense probably damaging 0.98
R9321:Carmil3 UTSW 14 55,741,425 (GRCm39) missense
R9346:Carmil3 UTSW 14 55,732,141 (GRCm39) missense probably damaging 1.00
R9387:Carmil3 UTSW 14 55,731,869 (GRCm39) nonsense probably null
R9578:Carmil3 UTSW 14 55,741,293 (GRCm39) critical splice acceptor site probably null
U24488:Carmil3 UTSW 14 55,734,636 (GRCm39) missense probably benign 0.02
Z1088:Carmil3 UTSW 14 55,739,025 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCATAGCAACCATACACTGCG -3'
(R):5'- CTTTTCTCAGGTCCAGTCTGGG -3'

Sequencing Primer
(F):5'- TGTGAGCGACATCTCTCAAG -3'
(R):5'- GGCACCATGCGATGCCTATG -3'
Posted On 2020-10-20